Canonical Allele Identifier: CA7545911

Gene: MYEF2 SLC24A5

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134988A>G , CM000677.2:g.48134988A>G	GRCh38
NC_000015.9:g.48427185A>G , CM000677.1:g.48427185A>G	GRCh37
NC_000015.8:g.46214477A>G	NCBI36
NG_011500.1:g.19017A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_016132.5:c.*7920T>C (MYEF2) MANE Select	NP_057216.3:n.*7920T>C
NM_205850.3:c.590+4A>G (SLC24A5) MANE Select	NP_995322.1:n.590+4A>G
ENST00000324324.12:c.*7920T>C (MYEF2) MANE Select	ENSP00000316950.7:n.*7920T>C
ENST00000341459.8:c.590+4A>G (SLC24A5) MANE Select	ENSP00000341550.3:n.590+4A>G
NM_001301210.2:c.*7920T>C (MYEF2)	NP_001288139.2:n.*7920T>C
NM_205850.2:c.590+4A>G (SLC24A5)	NP_995322.1:n.590+4A>G
ENST00000324324.11:c.*7920T>C (MYEF2)	ENSP00000316950.7:n.*7920T>C
ENST00000341459.7:c.590+4A>G (SLC24A5)	ENSP00000341550.3:n.590+4A>G
ENST00000449382.2:c.410+4A>G (SLC24A5)	ENSP00000389966.2:n.410+4A>G
ENST00000463289.1:n.350+4A>G (SLC24A5)
XM_005254425.4:c.*8075T>C (MYEF2)	XP_005254482.2:n.*8075T>C
XM_011521458.1:c.611+4A>G (SLC24A5)	XP_011519760.1:n.611+4A>G
XM_017022079.1:c.344+4A>G (SLC24A5)	XP_016877568.1:n.344+4A>G
XM_017022080.1:c.344+4A>G (SLC24A5)	XP_016877569.1:n.344+4A>G
XM_017022285.1:c.*8075T>C (MYEF2)	XP_016877774.1:n.*8075T>C
XM_017022286.1:c.*8075T>C (MYEF2)	XP_016877775.1:n.*8075T>C
XM_017022287.1:c.*8075T>C (MYEF2)	XP_016877776.1:n.*8075T>C
XM_017022291.1:c.*8075T>C (MYEF2)	XP_016877780.1:n.*8075T>C
XM_017022292.1:c.*8075T>C (MYEF2)	XP_016877781.1:n.*8075T>C
XM_024449901.1:c.251+4A>G (SLC24A5)	XP_024305669.1:n.251+4A>G